LOCUS       NM_004425               2046 bp    mRNA    linear   PRI 17-NOV-2024
DEFINITION  Homo sapiens extracellular matrix protein 1 (ECM1), transcript
            variant 1, mRNA.
ACCESSION   NM_004425
VERSION     NM_004425.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2046)
  AUTHORS   Sun,C., Fan,W., Basha,S., Tian,T., Jin-Smith,B., Barkin,J., Xie,H.,
            Zhou,J., Yin,X.M., Ling,C., Sun,B., Petersen,B. and Pi,L.
  TITLE     Extracellular matrix protein 1 binds to connective tissue growth
            factor against liver fibrosis and ductular reaction
  JOURNAL   Hepatol Commun 8 (11), e0564 (2024)
   PUBMED   39470347
  REMARK    GeneRIF: Extracellular matrix protein 1 binds to connective tissue
            growth factor against liver fibrosis and ductular reaction.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2046)
  AUTHORS   Tasdelen,E., Sezer,A. and An,I.
  TITLE     A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in
            the southeast region of Turkiye
  JOURNAL   Am J Med Genet A 194 (10), e63782 (2024)
   PUBMED   38842389
  REMARK    GeneRIF: A founder deletion in ECM1 of 1163 bp causes lipoid
            proteinosis in the southeast region of Turkiye.
REFERENCE   3  (bases 1 to 2046)
  AUTHORS   Yu,Y., Lyu,C., Li,X., Yang,L., Wang,J., Li,H., Xin,Z., Xu,X.,
            Ren,C. and Yang,G.
  TITLE     Remodeling of tumor microenvironment by extracellular matrix
            protein 1a differentially regulates ovarian cancer metastasis
  JOURNAL   Cancer Lett 596, 217022 (2024)
   PUBMED   38849014
  REMARK    GeneRIF: Remodeling of tumor microenvironment by extracellular
            matrix protein 1a differentially regulates ovarian cancer
            metastasis.
REFERENCE   4  (bases 1 to 2046)
  AUTHORS   Shinomiya,Y., Kouchi,Y., Harada-Kagitani,S., Ishige,T., Takano,S.,
            Ohtsuka,M., Ikeda,J.I. and Kishimoto,T.
  TITLE     ECM1 and KRT6A are involved in tumor progression and
            chemoresistance in the effect of dexamethasone on pancreatic cancer
  JOURNAL   Cancer Sci 115 (6), 1948-1963 (2024)
   PUBMED   38613239
  REMARK    GeneRIF: ECM1 and KRT6A are involved in tumor progression and
            chemoresistance in the effect of dexamethasone on pancreatic
            cancer.
REFERENCE   5  (bases 1 to 2046)
  AUTHORS   Deckers,M.M., Smits,P., Karperien,M., Ni,J., Tylzanowski,P.,
            Feng,P., Parmelee,D., Zhang,J., Bouffard,E., Gentz,R., Lowik,C.W.
            and Merregaert,J.
  TITLE     Recombinant human extracellular matrix protein 1 inhibits alkaline
            phosphatase activity and mineralization of mouse embryonic
            metatarsals in vitro
  JOURNAL   Bone 28 (1), 14-20 (2001)
   PUBMED   11165938
REFERENCE   6  (bases 1 to 2046)
  AUTHORS   Smits,P., Poumay,Y., Karperien,M., Tylzanowski,P., Wauters,J.,
            Huylebroeck,D., Ponec,M. and Merregaert,J.
  TITLE     Differentiation-dependent alternative splicing and expression of
            the extracellular matrix protein 1 gene in human keratinocytes
  JOURNAL   J Invest Dermatol 114 (4), 718-724 (2000)
   PUBMED   10733679
REFERENCE   7  (bases 1 to 2046)
  AUTHORS   Smits,P., Ni,J., Feng,P., Wauters,J., Van Hul,W., Boutaibi,M.E.,
            Dillon,P.J. and Merregaert,J.
  TITLE     The human extracellular matrix gene 1 (ECM1): genomic structure,
            cDNA cloning, expression pattern, and chromosomal localization
  JOURNAL   Genomics 45 (3), 487-495 (1997)
   PUBMED   9367673
REFERENCE   8  (bases 1 to 2046)
  AUTHORS   Johnson,M.R., Wilkin,D.J., Vos,H.L., Ortiz de Luna,R.I.,
            Dehejia,A.M., Polymeropoulos,M.H. and Francomano,C.A.
  TITLE     Characterization of the human extracellular matrix protein 1 gene
            on chromosome 1q21
  JOURNAL   Matrix Biol 16 (5), 289-292 (1997)
   PUBMED   9501329
REFERENCE   9  (bases 1 to 2046)
  AUTHORS   Vahidnezhad,H., Youssefian,L. and Uitto,J.
  TITLE     Lipoid Proteinosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26803878
REFERENCE   10 (bases 1 to 2046)
  AUTHORS   Viliavin,G.D., Panchenko,K.P., Nishanov,F. and Budaev,K.D.
  TITLE     [Acid-producing function of the stomach in pyloric ulcers]
  JOURNAL   Sov Med (12), 43-45 (1977)
   PUBMED   601588
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA963826.1, U68186.1,
            AL356356.17 and CA413352.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004425.3.
            
            Summary: This gene encodes a soluble protein that is involved in
            endochondral bone formation, angiogenesis, and tumor biology. It
            also interacts with a variety of extracellular and structural
            proteins, contributing to the maintenance of skin integrity and
            homeostasis. Mutations in this gene are associated with lipoid
            proteinosis disorder (also known as hyalinosis cutis et mucosae or
            Urbach-Wiethe disease) that is characterized by generalized
            thickening of skin, mucosae and certain viscera. Alternatively
            spliced transcript variants encoding distinct isoforms have been
            described for this gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005374.1, AK292435.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369047.9/ ENSP00000358043.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                DA963826.1         99-135
            38-592              U68186.1           40-594
            593-809             AL356356.17        38244-38460
            810-1184            AL356356.17        38719-39093
            1185-1405           AL356356.17        39614-39834
            1406-1493           AL356356.17        39987-40074
            1494-1777           AL356356.17        40499-40782
            1778-2046           CA413352.1         18-286              c
FEATURES             Location/Qualifiers
     source          1..2046
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..2046
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /note="extracellular matrix protein 1"
                     /db_xref="GeneID:1893"
                     /db_xref="HGNC:HGNC:3153"
                     /db_xref="MIM:602201"
     exon            1..171
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1724
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; secretory component p85; testicular tissue
                     protein Li 61"
                     /codon_start=1
                     /product="extracellular matrix protein 1 isoform 1
                     precursor"
                     /protein_id="NP_004416.2"
                     /db_xref="CCDS:CCDS953.1"
                     /db_xref="GeneID:1893"
                     /db_xref="HGNC:HGNC:3153"
                     /db_xref="MIM:602201"
                     /translation="MGTTARAALVLTYLAVASAASEGGFTATGQRQLRPEHFQEVGYA
                     APPSPPLSRSLPMDHPDSSQHGPPFEGQSQVQPPPSQEATPLQQEKLLPAQLPAEKEV
                     GPPLPQEAVPLQKELPSLQHPNEQKEGTPAPFGDQSHPEPESWNAAQHCQQDRSQGGW
                     GHRLDGFPPGRPSPDNLNQICLPNRQHVVYGPWNLPQSSYSHLTRQGETLNFLEIGYS
                     RCCHCRSHTNRLECAKLVWEEAMSRFCEAEFSVKTRPHWCCTRQGEARFSCFQEEAPQ
                     PHYQLRACPSHQPDISSGLELPFPPGVPTLDNIKNICHLRRFRSVPRNLPATDPLQRE
                     LLALIQLEREFQRCCRQGNNHTCTWKAWEDTLDKYCDREYAVKTHHHLCCRHPPSPTR
                     DECFARRAPYPNYDRDILTIDIGRVTPNLMGHLCGNQRVLTKHKHIPGLIHNMTARCC
                     DLPFPEQACCAEEEKLTFINDLCGPRRNIWRDPALCCYLSPGDEQVNCFNINYLRNVA
                     LVSGDTENAKGQGEQGSTGGTNISSTSEPKEE"
     exon            172..222
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            223..324
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            325..405
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            406..486
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            487..809
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            810..1184
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1405
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1493
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..2046
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1796..1801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /note="hexamer: ACTAAA"
     polyA_site      1812
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /note="major polyA site"
     regulatory      2028..2033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECM1"
                     /gene_synonym="URBWD"
                     /note="hexamer: ACTAAA"
     polyA_site      2046
                     /gene="ECM1"
                     /gene_synonym="URBWD"
ORIGIN      
        1 aaccgtaaca gccaccagac aagcttcagt ggccggccct tcacatccag acttgcctga
       61 gaggacccac ctctgagtgt ccagtggtca gttgccccag gatggggacc acagccagag
      121 cagccttggt cttgacctat ttggctgttg cttctgctgc ctctgaggga ggcttcacgg
      181 ctacaggaca gaggcagctg aggccagagc actttcaaga agttggctac gcagctcccc
      241 cctccccacc cctatcccga agcctcccca tggatcaccc tgactcctct cagcatggcc
      301 ctccctttga gggacagagt caagtgcagc cccctccctc tcaggaggcc acccctctcc
      361 aacaggaaaa gctgctacct gcccaactcc ctgctgaaaa ggaagtgggt ccccctctcc
      421 ctcaggaagc tgtccccctc caaaaagagc tgccctctct ccagcacccc aatgaacaga
      481 aggaaggaac gccagctcca tttggggacc agagccatcc agaacctgag tcctggaatg
      541 cagcccagca ctgccaacag gaccggtccc aagggggctg gggccaccgg ctggatggct
      601 tcccccctgg gcggccttct ccagacaatc tgaaccaaat ctgccttcct aaccgtcagc
      661 atgtggtata tggtccctgg aacctaccac agtccagcta ctcccacctc actcgccagg
      721 gtgagaccct caatttcctg gagattggat attcccgctg ctgccactgc cgcagccaca
      781 caaaccgcct agagtgtgcc aaacttgtgt gggaggaagc aatgagccga ttctgtgagg
      841 ccgagttctc ggtcaagacc cgaccccact ggtgctgcac gcggcagggg gaggctcggt
      901 tctcctgctt ccaggaggaa gctccccagc cacactacca gctccgggcc tgccccagcc
      961 atcagcctga tatttcctcg ggtcttgagc tgcctttccc tcctggggtg cccacattgg
     1021 acaatatcaa gaacatctgc cacctgaggc gcttccgctc tgtgccacgc aacctgccag
     1081 ctactgaccc cctacaaagg gagctgctgg cactgatcca gctggagagg gagttccagc
     1141 gctgctgccg ccaggggaac aatcacacct gtacatggaa ggcctgggag gatacccttg
     1201 acaaatactg tgaccgggag tatgctgtga agacccacca ccacttgtgt tgccgccacc
     1261 ctcccagccc tactcgggat gagtgctttg cccgtcgggc tccttacccc aactatgacc
     1321 gggacatctt gaccattgac atcggtcgag tcacccccaa cctcatgggc cacctctgtg
     1381 gaaaccaaag agttctcacc aagcataaac atattcctgg gctgatccac aacatgactg
     1441 cccgctgctg tgacctgcca tttccagaac aggcctgctg tgcagaggag gagaaattaa
     1501 ccttcatcaa tgatctgtgt ggtccccgac gtaacatctg gcgagaccct gccctctgct
     1561 gttacctgag tcctggggat gaacaggtca actgcttcaa catcaattat ctgaggaacg
     1621 tggctctagt gtctggagac actgagaacg ccaagggcca gggggagcag ggctcaactg
     1681 gaggaacaaa tatcagctcc acctctgagc ccaaggaaga atgagtcacc ccagagccct
     1741 agagggtcag atggggggaa ccccaccctg ccccacccat ctgaacactc attacactaa
     1801 acacctcttg gatttggtgt cctcattgtc tatctaatgt ctcacccgca gtgttttaag
     1861 tggatcttgg tgccctggcc caggagggca ctggcgtttt cagacacacc acagacaaac
     1921 acaccctcct aagcctgctt gtatttcctt cagtgcctgg cccctgaggc ccacggccct
     1981 gcccccttca ctgagcagat gttcacaggc tgtgggatgc gaccataact aaacagcttg
     2041 acgtca
//
